| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550895C>T | CA019280 | SCN5A | c.5474G>A (p.Arg1825His) c.5477G>A (p.Arg1826His) c.5423G>A (p.Arg1808His) c.5315G>A (p.Arg1772His) c.5378G>A (p.Arg1793His) c.5348G>A (p.Arg1783His) c.5420G>A (p.Arg1807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550895C>A | CA352141030 | SCN5A | c.5474G>T (p.Arg1825Leu) c.5477G>T (p.Arg1826Leu) c.5423G>T (p.Arg1808Leu) c.5315G>T (p.Arg1772Leu) c.5378G>T (p.Arg1793Leu) c.5348G>T (p.Arg1783Leu) c.5420G>T (p.Arg1807Leu) | dbSNP gnomAD v4 |
| 3 | g.38550895C= | CA1358556841 | SCN5A | c.5474G= (p.Arg1825=) c.5477G= (p.Arg1826=) c.5423G= (p.Arg1808=) c.5315G= (p.Arg1772=) c.5378G= (p.Arg1793=) c.5348G= (p.Arg1783=) c.5420G= (p.Arg1807=) | dbSNP |
| 3 | g.38550895C>G | CA352141031 | SCN5A | c.5474G>C (p.Arg1825Pro) c.5477G>C (p.Arg1826Pro) c.5423G>C (p.Arg1808Pro) c.5315G>C (p.Arg1772Pro) c.5378G>C (p.Arg1793Pro) c.5348G>C (p.Arg1783Pro) c.5420G>C (p.Arg1807Pro) | dbSNP |